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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.169541835T>G , CM000663.2:g.169541835T>G
GRCh38
NC_000001.10:g.169511073T>G , CM000663.1:g.169511073T>G
GRCh37
NC_000001.9:g.167777697T>G
NCBI36
NG_011806.1:g.49697A>C , LRG_553:g.49697A>C
Transcript Alleles
HGVS
Amino-acid Change
NM_000130.5:c.3255A>C
MANE Select
NP_000121.2:p.Thr1085=
ENST00000367797.9:c.3255A>C
MANE Select
ENSP00000356771.3:p.Thr1085=
NM_000130.4:c.3255A>C , LRG_553t1:c.3255A>C
NP_000121.2:p.Thr1085=
ENST00000367796.3:c.3270A>C
ENSP00000356770.3:p.Thr1090=
ENST00000367797.7:c.3255A>C
ENSP00000356771.3:p.Thr1085=
XM_017000660.2:c.2844A>C
XP_016856149.1:p.Thr948=